Genetic and Medical Glossary

Glossary

All | # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
There are 27 names in this directory beginning with the letter E.
Ebstein’s anomaly
congenital heart defect in which parts of the tricuspid valve are abnormal

Ectoderm
outermost of the three primary germ layers of an embryo, from which the epidermis, nervous tissue, and sense organs develop

Ectopic
abnormal place or position

Ectopic cordis
congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax

Ectropion
outward turning (eversion) or rotation of the eyelid; usually involves the lower eyelid

Edwards syndrome (trisomy 18)
also known as trisomy 18; a chromosomal disorder in which there is an extra copy of chromosome 18; newborns commonly have small eyes, deformed ears, heart defects, and severe intellectual impairment; mortality is high

Emanuel syndrome
chromosomal disorder in which there is a supernumerary chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22 in each cell, expressed as der(22); characterized in infancy by weak muscle tone (hypotonia), failure to thrive, distinct facial appearance, and developmental delay; severe to profound intellectual disability is common

Encephalocele
birth defect associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain protrudes outside the skull

Endocardial cushion defect
congenital heart condition in which the walls separating all four chambers of the heart are poorly formed or absent

Entropion
inward turning (inversion) of the eyelid margin

Epicanthal fold (epiblepharon)
redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva

Epicanthus inversus
fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus

Epignathus
unequal conjoined twins in which the smaller, incomplete parasite is attached to the larger autosite at the lower jaw

Epilepsy
neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain

Epileptiform
resembling epilepsy or its manifestations

Esophageal atresia
birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally and is separated into two parts, an upper and lower segment one of which end in a blind pouch; the two segments do not connect and the normal passage between the mouth and stomach does not exist

Etiology
the cause or causes of a disease or disorder

Euploid
the normal number of chromosomes for a cell or organism, 46 in the case of humans

Exencephaly
disorder wherein the brain is located outside of the skull, causing the neural tissue to gradually degenerate; usually found in embryos as an early stage of anencephaly

Exome
entire portion of the protein-coding sequences of the genome, omitting introns and noncoding DNA

Exon
a segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence, usually flanked by introns

Exophthalmos
abnormal protrusion of the eyeballs

Exostose
benign outgrowth of cartilaginous tissue on a bone

Expressivity
the degree to which a genotype is expressed as a phenotype

Exstrophy
Eversion of a hollow organ at birth, eg, exstrophic bladder is turned inside out like a rubber glove

Exudative enteropathy
diarrhea that occurs in diseases characterized by inflammation or destruction of intestinal mucosa

Eyelid, cleft
short discontinuity of the margin of the lower or upper eyelid

You are donating to : Chromosome Disorder Outreach, Inc, a 501c non-profit organization.

CDO is a 501C3 non-profit organization. FL Reg #SC11200 100% of donations are used to support those affected by chromosome disorders. CDO does not employ professional fundraisers.

How much would you like to donate?
$10 $25 $50
Would you like to make regular donations? I would like to make donation(s)
How many times would you like this to recur? (including this payment) *
Name *
Last Name *
Email *
Phone
Address
Additional Note
Loading...